Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease-Reference-Cited by-同舟云学术

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease

Published:2022-09-16 Issue:3 Volume:90 Page:240-248
ISSN:0019-5456
Container-title:Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Nagral Aabha^ORCID,Mallakmir Snehal,Garg Nikita,Tiwari Kritika,Masih Suzena,Nagral Nishtha,Unavane Ojas,Jhaveri Ajay,Phadke Shubha,ArunKumar GaneshPrasad,Aggarwal Rakesh

Funder

Children’s Liver foundation, Mumbai.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s12098-022-04250-9.pdf

Reference29 articles.

1. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9:210–7.

2. Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper-transporting ATPases. Physiol Rev. 2007;87:1011–46.

3. Behari M, Pardasani V. Genetics of Wilsons disease. Parkinsonism Relat Disord. 2010;16:639–44.

4. Kenney SM, Cox DW. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum Mutat. 2007;28:1171–7.

5. Kumar M, Gaharwar U, Paul S, et al. WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s disease. Sci Rep. 2020;10:9037.

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